CPT® Code 81308

The CPT® Code 81308 pertains to the molecular genetic testing of the PALB2 gene, specifically focusing on the analysis of known familial variants. The PALB2 gene, which stands for partner and localizer of BRCA2, is located on the short (p) arm of chromosome 16 at position 12.2 (16p12.2). This gene plays a crucial role in the cellular mechanisms of DNA repair by encoding a protein that interacts with the BRCA2 gene, as well as potentially with other genes such as BRC3, BRC4, and RAD51. Mutations that result in the loss of function of the PALB2 gene have been associated with an elevated risk of developing certain cancers, including breast cancer in both males and females, pancreatic cancer, and conditions such as Fanconi anemia. These mutations can occur across diverse ethnic and racial groups, highlighting the importance of genetic testing in identifying individuals at risk. The analysis of the PALB2 gene, which can include full gene sequencing and the examination of known familial variants, is essential for confirming a hereditary predisposition to cancer, guiding treatment decisions, and identifying family members who may also be at risk. Specimens for this testing can be obtained from various sources, including whole blood, saliva, buccal cells, cultured cells, or extracted DNA, which are collected through separate procedures. The testing process may involve advanced techniques such as next-generation sequencing (NGS) and polymerase chain reaction (PCR) to analyze the entire coding regions of the gene, as well as methods like multiple ligation-dependent probe amplification (MLPA) to detect larger deletion or duplication mutations. When focusing on a known familial variant, the analysis specifically targets the mutation(s) previously identified in a family member, utilizing methods such as PCR followed by DNA sequencing or gene dosage analysis through array comparative genomic hybridization (aCGH) or MLPA.